Analysis of the DNA sequence and duplication history of human chromosome 15

Article

关键词: HUMAN-GENOME;    SEGMENTAL DUPLICATIONS;    GENERATION;    DATABASE;    DISEASE;    MAP;   

DOI  :  10.1038/nature04601

来源: SCIE

【 摘 要 】

Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication(1), we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes(2,3). Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity(4). Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome.

【 授权许可】

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